HGVS | Genome Assembly |
---|---|
NC_000016.10:g.177121G>A , CM000678.2:g.177121G>A | GRCh38 |
NC_000016.9:g.227120G>A , CM000678.1:g.227120G>A | GRCh37 |
NC_000016.8:g.167120G>A | NCBI36 |
NG_000006.1:g.37984G>A | |
NG_059186.1:g.5471G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320868.9:c.288G>A MANE Select | ENSP00000322421.5:p.Pro96= | |
ENST00000397797.1:c.192G>A | ENSP00000380899.1:p.Pro64= | |
ENST00000472694.1:n.424G>A | ||
ENST00000487791.1:n.257G>A | ||
NM_000558.4:c.288G>A | NP_000549.1:p.Pro96= | |
NM_000558.5:c.288G>A MANE Select | NP_000549.1:p.Pro96= |